Parenthood and the three-gene screen
Reproductive genetic carrier screening (RGCS) aims to identify couples of reproductive age who have a high chance of having children with severe or life-threatening inherited…
Tag: Genetics
‘My message to all clinicians is that delayed diagnosis can be devastating’: Endocrinologist on rare bone diseases
The endocrinologist warns that patients are missing out on innovative treatments
Spot Dx — Do these brown rings catch your eye?
Sera is a 35-year-old receptionist whose optometrist has recommended she see her GP regarding corneal lesions. Test your clinical know-how by taking the quiz below.…
Genomic testing in primary care
Genomic testing describes the assessment of genetic information across multiple genes, all of which, together or separately, can provide information about an individual’s health. Genomic…
Are you familiar with the newer therapies to treat XLH?
Take a minute to fill in this questionnaire for the chance win a Visa gift card
Patient’s spinal fracture leads to GP diagnosis of rare genetic disorder
An unusual spinal fracture led GP Dr John Manton to uncover a rare genetic disorder that would have probably gone undiagnosed without him. His patient…
Spot Dx — Is the answer on the tip of his tongue?
Kevin, a 45-year-old finance manager, presents with altered bowel habits on a background of longstanding irritable bowel syndrome (IBS). Test your clinical know-how by taking…
Toddler’s unexplained injuries lead to Australian-first skin fragility diagnosis
A suspected child abuse case in a two-year-old girl turned out to be an Australian-first presentation of a rare epidermolysis bullosa subtype. Doctors say their…
Medical Must-See: Port-wine stain and a bony growth
Klippel–Trenaunay syndrome is easily diagnosed at birth but sometimes slips past doctors, according to Indian dermatologists who found the rare genetic condition in a three-year-old…
A GP guide to loss of ovarian function in younger women
Premature ovarian insufficiency (POI) is defined as loss of ovarian function before age 40, and early menopause (EM) as menopause occurring between the ages of…
